M. G. Ipatova, V. V. Kholostova, S.M. Chekh, E. Sergeeva, P. Shumilov, A. Razumovskiy
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Clinical case of hereditary pancreatitis in four siblings due to mutations in the PRSS1 gene
Hereditary pancreatitis in children remains a challenging problem in clinical genetics, gastroenterology, and surgery. Genetic causes account for more than 50% of all cases of acute recurrent pancreatitis and 75% of chronic pancreatitis in children. The development of chronic pancreatitis is commonly caused by mutations in the CFTR, PRSS1, SPINK1, CTRC, and CPA1 genes. This article presents a clinical case of hereditary pancreatitis with an autosomal dominant inheritance in 4 siblings, in whom a pathogenic variant in the PRSS1 gene was detected during molecular genetic testing. Key words: hereditary pancreatitis, pathogenic variant, PRSS1 gene, children, siblings
期刊介绍:
The scientific journal Voprosy Detskoi Dietologii is included in the Scopus database. Publisher country is RU. The main subject areas of published articles are Food Science, Pediatrics, Perinatology, and Child Health, Nutrition and Dietetics, Клиническая медицина.